Grace's Story

A cheerleader and competitive dancer, Grace W.* wasn’t prepared to get sidelined when she was first struck with pain in her ears and sinuses at age 17. Diagnosed with otitis media and sinusitis, she was prescribed a series of 3 antibiotics over the next few weeks. The first antibiotic did not improve her symptoms, and she was switched off the second because of suspected dermatitis; she did not respond to the third antibiotic either.

Before long, Grace developed pneumonia-like symptoms; she eventually was admitted to a local community hospital when she began to bleed from her nose and ears. Over the course of about 10 days, Grace went into organ failure, and the hospital staff told her family that she did not have much longer to live.

Grace’s family didn’t give up, though. Advocating on her behalf, they managed to get her transferred to a specialty hospital 2 hours from her home. On the way there, they had her medical records faxed over, and by the time they had arrived at the emergency room (ER), the ER team already had a good handle on Grace’s case. Upon admittance, Grace was diagnosed with Wegener granulomatosis, and the ER staff initiated plasmapheresis and started Grace on rituximab and cyclophosphamide. However, the doctor in charge told Grace’s aunt that he had seen 6 cases of Wegener granulomatosis over the past 4 months—and in only one case did the patient live. Grace’s family was told that she probably had only 12 hours to live.

Although Grace survived, her life changed dramatically over the next few months as she struggled to finish up her senior year. She constantly felt tired, had to do a lot of her schoolwork at home, and was no longer able to participate in the activities she had been involved in. “She couldn’t even really go out with her friends,” her brother explained. “She was depressed for a while.”

“When it first happened, our entire family went into overdrive,” he added, noting that his father had to take time off from work to take Grace back and forth to the specialty pediatrics hospital on an almost weekly basis. “Grace had to watch what she ate carefully; she couldn’t be around people who were sick. We all knew we had to be there for her.”

Determined to live the best life she could, Grace managed to graduate from high school and enroll in a community college with a goal of opening her own dance school for children with rare diseases. She was not out of the woods yet, though. Eight months after Grace received the Wegener granulomatosis diagnosis, her primary care provider decided to discontinue the prednisone she was taking, and Grace had a relapse.

Grace ended up back in the hospital, where she had to undergo another cycle of rituximab, cyclophosphamide, and plasmapheresis to stabilize her condition. When Grace’s family followed up with her primary care provider, they were told she was taken off of prednisone because people can’t stay on it for long periods of time.

“Although that is normally true, Grace has a rare disease,” her aunt explained. “I could sense her primary care provider’s lack of confidence when we discussed this issue. Sometime later, Grace was given a routine vaccination as part of a normal primary care routine; you can’t give a live virus to an immunocompromised patient.”

Today, more than 3 years after her diagnosis, Grace’s condition seems to finally be stable, and she’s taken back some of the life she loved. She works at a dance school, helping teach jazz, hip hop, and contemporary classes to children, and she is no longer on medication. However, her family lives in constant fear that she might relapse. “It’s like a time bomb waiting to go off—for the perfect storm to occur,” Grace’s brother said. “We want to be prepared if that happens.”

Grace’s story is not uncommon. Although everyone treating her had the best of intentions, Grace faced several health crises that could have been averted.

So what are primary care providers to do when faced with diagnosing and treating a patient with a rare disease? Might more information and enhanced communication with other health care professionals help patients like Grace?

Rare Opportunities in Primary Care certainly believes so. By working together and partnering to help these patients, it is our hope that those who see patients with rare diseases will be able to:

Reduce time from symptom presentation to diagnosis

Address diagnostic dilemmas

Prevent complications for patients already diagnosed and on a treatment

Improve their confidence in their ability to care for these patients and, thereby, minimize room for error